Articles with "causing mutation" as a keyword



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ALS/FTD-causing mutation in cyclin F causes the dysregulation of SFPQ.

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Published in 2021 at "Human molecular genetics"

DOI: 10.1093/hmg/ddab073

Abstract: Previously, we identified missense mutations in CCNF that are causative of familial and sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Hallmark features of these diseases include the build-up of insoluble protein aggregates as… read more here.

Keywords: sfpq; causing mutation; ftd causing; cyclin ... See more keywords